Evidence map›Paper›PMID 39523675›Full record

ArticleBJPsych open2024

Cognitive, adaptive and daily life functioning in adults with 22q11.2 deletion syndrome.

Claudia Vingerhoets, Julia Ruiz-Fernandez, Emma von Scheibler, Elfi Vergaelen, Nele Volbragt, Nele Soons, Chaira Serrarens, Annick Vogels, Erik Boot, Therese van Amelsvoort and 1 more

Abstract read
In one paragraph

Article in BJPsych open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Claudia VingerhoetsDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.ORCID https://orcid.org/0000-0001-7790-5041
Julia Ruiz-FernandezDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and INSERM U1299, Centre Borelli UMR9010, ENS-Paris-Saclay, Université Paris Saclay, Paris, France.
Emma von ScheiblerDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; and Koraal, Maastricht, The Netherlands.ORCID https://orcid.org/0000-0001-8698-946X
Elfi VergaelenCenter for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Nele VolbragtDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands.
Nele SoonsDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands.
Chaira SerrarensDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands.ORCID https://orcid.org/0000-0002-5310-6859
Annick VogelsCenter for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
Erik BootDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands; and The Dalglish Family 22q Clinic, Toronto, Ontario, Canada.
Therese van AmelsvoortDepartment of Psychiatry and Neuropsychology, MHeNs, Maastricht University, Maastricht, The Netherlands.
Ann SwillenCenter for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium; and Department of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.

Funding

8/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119740 · NIMH · MAASTRICHT UNIVERSITY · PI VAN AMELSVOORT, THERERESE · 2019 to 2023
$446k
NIMH NIH HHS U01 MH119740
6 · The paper itself

Abstract

background22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive impairments and an increased risk of psychopathology. Most of the research has been conducted in children and adolescents, although the majority of affected individuals live well into adulthood. Hence, limited data are available on functional outcomes in adults.

aimsTo provide more insight in cognitive and adaptive abilities, and daily life functioning (marital status, living situation and work situation) in adults with 22q11.2DS.

methodThis retrospective study included 250 Dutch-speaking adults (16-69 years) with 22q11.2DS from three sites in The Netherlands and Belgium. Data on full-scale IQ (FSIQ) scores (assessed with the Wechsler Adult Intelligence Scale), adaptive functioning (assessed with the Vineland Adaptive Behavior Scale II), and functional outcomes including marital status, living and work situation were systematically collected from clinical files. In addition, we examined predictors of adaptive functioning.

resultsThe majority of individuals in our adult sample demonstrated a low level of adaptive functioning (65%). In contrast to previous findings in children and adolescents, the majority functioned at an intellectual disability level (56%). Male sex, lower FSIQ and autism spectrum disorder were predictors of lower adaptive functioning (

conclusionsThese results suggest that low levels of cognitive and adaptive functioning are common in adults with 22q11.2DS. Future longitudinal and multicentre studies including older patients (>40 years) are needed to further investigate cognitive and adaptive trajectories and their interactions with physical and psychiatric comorbidities.

Indexed as

22q11.2DSadaptive functioningadultscognitiondaily life functioning

Identifiers

PMID39523675
PMCPMC11698185

What Socratic holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.